Variant report

Variant	rs8128692
Chromosome Location	chr21:15894583-15894584
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:15893314..15896057-chr21:15897268..15899492,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1882912	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs1882913	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2274796	0.81[JPT][hapmap]
rs2822709	0.85[EUR][1000 genomes]
rs2822710	0.92[CEU][hapmap];0.83[CHB][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes]
rs2822726	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2822731	0.92[CEU][hapmap];0.94[CHB][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3761321	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4817229	0.92[CEU][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes]
rs6516836	0.86[EUR][1000 genomes]
rs760343	0.92[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];1.00[EUR][1000 genomes]
rs760344	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs768279	0.83[EUR][1000 genomes]
rs8127586	0.83[EUR][1000 genomes]
rs8134290	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9305374	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9984947	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059591	chr21:15835325-15969195	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1056423	chr21:15838309-15948474	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv544376	chr21:15855470-15948474	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1065823	chr21:15863224-15948474	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1057934	chr21:15863224-15969195	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv913405	chr21:15875108-15899085	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv913406	chr21:15875108-15905580	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv1796464	chr21:15884475-15900198	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv1800015	chr21:15884475-15906590	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv913407	chr21:15885274-15899085	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv913408	chr21:15885274-15905580	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv913409	chr21:15885274-15908642	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv459097	chr21:15886919-15902978	Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv587045	chr21:15886919-15902978	Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv459098	chr21:15886919-15906590	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv587046	chr21:15886919-15906590	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv913410	chr21:15889553-15906590	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15853400-15905400	Weak transcription	HUVEC	blood vessel
2	chr21:15883200-15898600	Weak transcription	Spleen	Spleen
3	chr21:15883600-15895200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr21:15892800-15894600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr21:15893000-15896200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr21:15893000-15899400	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr21:15893200-15895000	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr21:15893200-15895200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr21:15893200-15895200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr21:15893200-15895200	Strong transcription	K562	blood
11	chr21:15893200-15898600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr21:15893400-15895000	Weak transcription	Fetal Thymus	thymus
13	chr21:15893400-15895200	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr21:15893400-15895200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr21:15893400-15895400	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr21:15893400-15895400	Enhancers	Primary hematopoietic stem cells	blood
17	chr21:15893400-15895400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr21:15893400-15896000	Enhancers	Primary B cells from cord blood	blood
19	chr21:15893400-15896200	Enhancers	Primary B cells from peripheral blood	blood
20	chr21:15893600-15895200	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr21:15893600-15895200	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr21:15893600-15895600	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr21:15893600-15895600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr21:15894000-15897800	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr21:15894200-15895000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr21:15894200-15895200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr21:15894200-15895200	Enhancers	Dnd41	blood
28	chr21:15894200-15895200	Enhancers	GM12878-XiMat	blood
29	chr21:15894200-15895400	Weak transcription	Primary T cells from cord blood	blood
30	chr21:15894200-15899200	Weak transcription	Thymus	Thymus
31	chr21:15894400-15894800	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr21:15894400-15895000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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